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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
R P G P P E G P V Q V T G V T S E K C S L T W S P P L Q D G G S D I S H Y V V E K R E T S R L A W T V V A S E V V T N S L K V T K L L E G N E Y V F R I M A V N K Y G V G E P L E S A P V L M K N P F V L P G P P K S L E V T N I A K D S M T V C W N R P D S D G G S E I I G Y I V E K R D R S G I R W I K C N K R R I T D L R L R V T G L T E D H E Y E F R V S A E N A A G V G E P S P A T V Y Y K A C D P
R P G P P E G P V Q V T G V T S E K C S L T W S P P L Q D G G S D I S H Y V V E K R E T S R L A W T V V A S E V V T N S L K V T K L L E G N E Y V F R I M A V N K Y G V G E P L E S A P V L M K N - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
26287 2 P/S 2 rs1451385344 0.1121 None gnomAD-4.0.0 1.3744E-06
26288 3 G/R 3 None 0.2067 None gnomAD-4.0.0 8.04847E-06
26289 4 P/R 4 None 0.3728 None gnomAD-4.0.0 1.37568E-06
26289 4 P/S 4 rs1030641242 0.3728 None gnomAD-3.1.2 6.58E-06
26289 4 P/S 4 rs1030641242 0.3728 None gnomAD-4.0.0 2.48957E-06
26290 5 P/A 5 rs1300310462 0.1083 None gnomAD-2.1.1 3.19E-05
26290 5 P/A 5 rs1300310462 0.1083 None gnomAD-3.1.2 6.58E-06
26290 5 P/A 5 rs1300310462 0.1083 None gnomAD-4.0.0 6.5754E-06
26290 5 P/L 5 rs1403341910 0.1083 None gnomAD-2.1.1 4.14E-06
26290 5 P/L 5 rs1403341910 0.1083 None gnomAD-4.0.0 1.61001E-06
26292 7 G/E 7 rs866974904 0.5052 None gnomAD-2.1.1 3.19E-05
26292 7 G/E 7 rs866974904 0.5052 None gnomAD-3.1.2 1.32E-05
26292 7 G/E 7 rs866974904 0.5052 None gnomAD-4.0.0 1.31562E-05
26293 8 P/S 8 None 0.8077 None gnomAD-4.0.0 1.60906E-06
26294 9 V/I 9 None 0.1847 None gnomAD-4.0.0 1.61007E-06
26296 11 V/I 12 rs754938831 0.2853 None gnomAD-2.1.1 4.13E-06
26296 11 V/I 12 rs754938831 0.2853 None gnomAD-4.0.0 1.6098E-06
26297 12 T/A 13 None 0.5329 None gnomAD-4.0.0 1.60862E-06
26298 13 G/R 14 rs72648205 0.3986 None gnomAD-2.1.1 3.48857E-04
26298 13 G/R 14 rs72648205 0.3986 None gnomAD-3.1.2 3.48528E-04
26298 13 G/R 14 rs72648205 0.3986 None gnomAD-4.0.0 2.91069E-04
26299 14 V/D 15 rs73036377 0.2754 None gnomAD-2.1.1 2.07238E-04
26299 14 V/D 15 rs73036377 0.2754 None gnomAD-3.1.2 6.25082E-04
26299 14 V/D 15 rs73036377 0.2754 None 1000 genomes 1.19808E-03
26299 14 V/D 15 rs73036377 0.2754 None gnomAD-4.0.0 1.014E-04
26299 14 V/L 15 None 0.2754 None gnomAD-4.0.0 1.60738E-06
26300 15 T/N 16 rs750541239 0.1890 None gnomAD-2.1.1 2.05E-05
26300 15 T/N 16 rs750541239 0.1890 None gnomAD-4.0.0 1.51092E-05
26301 16 S/A 17 None 0.1433 None gnomAD-4.0.0 1.20032E-06
26302 17 E/D 18 rs534003014 0.4602 None gnomAD-2.1.1 6.16E-05
26302 17 E/D 18 rs534003014 0.4602 None gnomAD-3.1.2 8.55E-05
26302 17 E/D 18 rs534003014 0.4602 None gnomAD-4.0.0 1.91421E-04
26304 19 C/Y 20 rs1706246762 0.0877 None gnomAD-4.0.0 1.20033E-06
26305 20 S/C 21 rs199646089 0.2480 None gnomAD-2.1.1 6.86E-05
26305 20 S/C 21 rs199646089 0.2480 None gnomAD-3.1.2 1.57795E-04
26305 20 S/C 21 rs199646089 0.2480 None gnomAD-4.0.0 2.9814E-05
26306 21 L/S 22 rs374124734 0.1164 None gnomAD-3.1.2 6.57E-06
26306 21 L/S 22 rs374124734 0.1164 None gnomAD-4.0.0 6.57445E-06
26307 22 T/I 23 None 0.3468 None gnomAD-4.0.0 1.59938E-06
26307 22 T/R 23 None 0.3468 None gnomAD-4.0.0 1.59938E-06
26308 23 W/S 24 rs1201085993 0.1366 None gnomAD-2.1.1 4.06E-06
26308 23 W/S 24 rs1201085993 0.1366 None gnomAD-4.0.0 1.59931E-06
26309 24 S/C 25 rs1213795169 0.3336 None gnomAD-3.1.2 6.57E-06
26309 24 S/C 25 rs1213795169 0.3336 None gnomAD-4.0.0 6.57436E-06
26309 24 S/T 25 rs113597171 0.3336 None gnomAD-4.0.0 2.74063E-06
26310 25 P/L 26 rs754702040 0.4365 None gnomAD-2.1.1 3.95E-05
26310 25 P/L 26 rs754702040 0.4365 None gnomAD-3.1.2 3.29E-05
26310 25 P/L 26 rs754702040 0.4365 None gnomAD-4.0.0 5.21096E-05
26310 25 P/T 26 rs1260101727 0.4365 None gnomAD-2.1.1 4.05E-06
26310 25 P/T 26 rs1260101727 0.4365 None gnomAD-4.0.0 1.59551E-06
26311 26 P/L 27 None 0.1701 None gnomAD-4.0.0 1.20033E-06
26311 26 P/S 27 rs888575364 0.1701 None gnomAD-2.1.1 4.05E-06
26311 26 P/S 27 rs888575364 0.1701 None gnomAD-3.1.2 6.58E-06
26311 26 P/S 27 rs888575364 0.1701 None gnomAD-4.0.0 4.342E-06
26312 27 L/I 28 None 0.9810 None gnomAD-4.0.0 1.59337E-06
26312 27 L/P 28 None 0.9810 None gnomAD-4.0.0 2.73845E-06
26314 29 D/G 30 rs1214319496 0.3115 None gnomAD-3.1.2 6.58E-06
26314 29 D/G 30 rs1214319496 0.3115 None gnomAD-4.0.0 2.56445E-06
26314 29 D/N 30 None 0.3115 None gnomAD-4.0.0 6.84539E-07
26316 31 G/D 32 None 0.5780 None gnomAD-4.0.0 2.40066E-06
26317 32 S/N 33 rs759942713 0.2070 None gnomAD-2.1.1 4.04E-06
26317 32 S/N 33 rs759942713 0.2070 None gnomAD-4.0.0 4.1068E-06
26317 32 S/R 33 None 0.2070 None gnomAD-4.0.0 1.20034E-06
26318 33 D/N 34 rs772799438 0.9635 None gnomAD-2.1.1 8.08E-06
26318 33 D/N 34 rs772799438 0.9635 None gnomAD-4.0.0 2.05333E-06
26319 34 I/N 35 None 0.2326 None gnomAD-4.0.0 6.84407E-07
26319 34 I/T 35 rs1706219374 0.2326 None gnomAD-4.0.0 2.05322E-06
26320 35 S/C 36 None 0.3443 None gnomAD-4.0.0 1.20032E-06
26321 36 H/Q 37 rs769466262 0.2083 None gnomAD-2.1.1 4.04E-06
26321 36 H/Q 37 rs769466262 0.2083 None gnomAD-3.1.2 6.57E-06
26321 36 H/Q 37 rs769466262 0.2083 None gnomAD-4.0.0 8.9724E-06
26321 36 H/Y 37 rs1466788424 0.2083 None gnomAD-3.1.2 6.57E-06
26321 36 H/Y 37 rs1466788424 0.2083 None gnomAD-4.0.0 6.57462E-06
26322 37 Y/F 38 None 0.1054 None gnomAD-4.0.0 1.5922E-06
26323 38 V/G 39 None 0.1790 None gnomAD-4.0.0 1.20032E-06
26323 38 V/I 39 None 0.1790 None gnomAD-4.0.0 2.40065E-06
26324 39 V/I 40 rs747655927 0.0960 None gnomAD-2.1.1 4.03E-06
26324 39 V/I 40 rs747655927 0.0960 None gnomAD-3.1.2 6.57E-06
26324 39 V/I 40 rs747655927 0.0960 None gnomAD-4.0.0 6.57358E-06
26326 41 K/M 42 rs780812684 0.2121 None gnomAD-2.1.1 1.61E-05
26326 41 K/M 42 rs780812684 0.2121 None gnomAD-4.0.0 9.55146E-06
26327 42 R/L 43 None 0.2437 None gnomAD-4.0.0 6.8433E-07
26327 42 R/Q 43 rs370367786 0.2437 None gnomAD-2.1.1 3.94E-05
26327 42 R/Q 43 rs370367786 0.2437 None gnomAD-3.1.2 7.23E-05
26327 42 R/Q 43 rs370367786 0.2437 None gnomAD-4.0.0 5.20647E-05
26328 43 E/A 44 rs746887830 0.1725 None gnomAD-2.1.1 4.03E-06
26328 43 E/A 44 rs746887830 0.1725 None gnomAD-4.0.0 1.59186E-06
26329 44 T/A 50 rs1443062175 0.3634 None gnomAD-2.1.1 4.03E-06
26329 44 T/A 50 rs1443062175 0.3634 None gnomAD-4.0.0 1.36865E-06
26330 45 S/G 54 rs1188453832 0.6298 None gnomAD-2.1.1 8.06E-06
26330 45 S/G 54 rs1188453832 0.6298 None gnomAD-4.0.0 4.10594E-06
26330 45 S/N 54 rs1427996263 0.6298 None gnomAD-2.1.1 1.43E-05
26330 45 S/N 54 rs1427996263 0.6298 None gnomAD-3.1.2 6.58E-06
26330 45 S/N 54 rs1427996263 0.6298 None gnomAD-4.0.0 5.5783E-06
26331 46 R/Q 60 rs758190406 0.4903 None gnomAD-2.1.1 2.86E-05
26331 46 R/Q 60 rs758190406 0.4903 None gnomAD-3.1.2 3.95E-05
26331 46 R/Q 60 rs758190406 0.4903 None gnomAD-4.0.0 1.61154E-05
26332 47 L/I 63 None 1.1632 None gnomAD-4.0.0 1.20032E-06
26333 48 A/D 64 None 0.5378 None gnomAD-4.0.0 1.36862E-06
26333 48 A/S 64 rs1221437302 0.5378 None gnomAD-2.1.1 4.03E-06
26333 48 A/S 64 rs1221437302 0.5378 None gnomAD-4.0.0 3.1836E-06
26333 48 A/T 64 None 0.5378 None gnomAD-4.0.0 3.1836E-06
26333 48 A/V 64 None 0.5378 None gnomAD-4.0.0 6.84309E-07
26334 49 W/R 65 rs779049537 0.2468 None gnomAD-2.1.1 8.06E-06
26334 49 W/R 65 rs779049537 0.2468 None gnomAD-4.0.0 3.18358E-06
26335 50 T/I 66 None 0.5118 None gnomAD-4.0.0 1.59182E-06
26335 50 T/S 66 None 0.5118 None gnomAD-4.0.0 3.18364E-06
26336 51 V/A 67 rs1706198787 0.4173 None gnomAD-3.1.2 6.58E-06
26336 51 V/A 67 rs1706198787 0.4173 None gnomAD-4.0.0 6.57583E-06
26336 51 V/I 67 rs1706199858 0.4173 None gnomAD-3.1.2 6.58E-06
26336 51 V/I 67 rs1706199858 0.4173 None gnomAD-4.0.0 4.06011E-06
26337 52 V/I 68 None 0.3056 None gnomAD-4.0.0 1.59177E-06
26338 53 A/S 69 rs757470480 0.2124 None gnomAD-2.1.1 8.06E-06
26338 53 A/S 69 rs757470480 0.2124 None gnomAD-3.1.2 6.58E-06
26338 53 A/S 69 rs757470480 0.2124 None gnomAD-4.0.0 3.78078E-05
26338 53 A/V 69 rs753948600 0.2124 None gnomAD-2.1.1 4.03E-06
26339 54 S/L 70 None 0.4698 None gnomAD-4.0.0 2.40065E-06
26340 55 E/Q 75 None 0.7195 None gnomAD-4.0.0 6.84306E-07
26342 57 V/E 83 None 0.7902 None gnomAD-4.0.0 1.20033E-06
26343 58 T/I 88 rs765936549 0.5392 None gnomAD-2.1.1 7.15E-06
26343 58 T/I 88 rs765936549 0.5392 None gnomAD-3.1.2 2.63E-05
26343 58 T/I 88 rs765936549 0.5392 None gnomAD-4.0.0 4.21473E-05
26345 60 S/C 90 rs1402438452 0.3340 None gnomAD-3.1.2 6.58E-06
26345 60 S/C 90 rs1402438452 0.3340 None gnomAD-4.0.0 6.57704E-06
26345 60 S/F 90 rs1402438452 0.3340 None gnomAD-2.1.1 3.19E-05
26345 60 S/F 90 rs1402438452 0.3340 None gnomAD-3.1.2 6.58E-06
26345 60 S/F 90 rs1402438452 0.3340 None gnomAD-4.0.0 6.57704E-06
26345 60 S/Y 90 None 0.3340 None gnomAD-2.1.1 4.03E-06
26345 60 S/Y 90 None 0.3340 None gnomAD-4.0.0 4.77535E-06
26348 63 V/A 93 rs1341655578 0.1321 None gnomAD-2.1.1 4.03E-06
26348 63 V/A 93 rs1341655578 0.1321 None gnomAD-4.0.0 2.0529E-06
26349 64 T/A 94 None 0.4284 None gnomAD-4.0.0 3.601E-06
26350 65 K/R 96 rs1278375861 0.9030 None gnomAD-2.1.1 3.19E-05
26350 65 K/R 96 rs1278375861 0.9030 None gnomAD-3.1.2 1.31E-05
26350 65 K/R 96 rs1278375861 0.9030 None gnomAD-4.0.0 3.09891E-06
26351 66 L/F 97 rs1706183837 0.1163 None gnomAD-4.0.0 1.20034E-06
26351 66 L/P 97 rs756625791 0.1163 None gnomAD-2.1.1 2.01E-05
26351 66 L/P 97 rs756625791 0.1163 None gnomAD-3.1.2 6.57E-06
26351 66 L/P 97 rs756625791 0.1163 None gnomAD-4.0.0 5.76408E-05
26352 67 L/F 98 None 0.6710 None gnomAD-4.0.0 1.20034E-06
26352 67 L/S 98 rs753271373 0.6710 None gnomAD-2.1.1 4.03E-06
26352 67 L/S 98 rs753271373 0.6710 None gnomAD-4.0.0 3.18344E-06
26354 69 G/D 100 rs1706180054 0.3667 None gnomAD-3.1.2 6.57E-06
26354 69 G/D 100 rs1706180054 0.3667 None gnomAD-4.0.0 2.03006E-06
26357 72 Y/C 104 rs1461657543 0.0919 None gnomAD-2.1.1 4.02E-06
26357 72 Y/C 104 rs1461657543 0.0919 None gnomAD-3.1.2 6.58E-06
26357 72 Y/C 104 rs1461657543 0.0919 None gnomAD-4.0.0 2.47918E-06
26357 72 Y/H 104 None 0.0919 None gnomAD-4.0.0 1.59168E-06
26357 72 Y/N 104 rs973899750 0.0919 None gnomAD-3.1.2 2.63E-05
26357 72 Y/N 104 rs973899750 0.0919 None gnomAD-4.0.0 2.62957E-05
26358 73 V/I 105 rs774747865 0.1250 None gnomAD-2.1.1 3.93E-05
26358 73 V/I 105 rs774747865 0.1250 None gnomAD-3.1.2 8.55E-05
26358 73 V/I 105 rs774747865 0.1250 None gnomAD-4.0.0 1.85938E-05
26359 74 F/L 106 rs764833155 0.1251 None gnomAD-2.1.1 3.62E-05
26359 74 F/L 106 rs764833155 0.1251 None gnomAD-4.0.0 1.7107E-05
26360 75 R/C 107 rs889825410 0.1392 None gnomAD-2.1.1 1.43E-05
26360 75 R/C 107 rs889825410 0.1392 None gnomAD-3.1.2 3.29E-05
26360 75 R/C 107 rs889825410 0.1392 None gnomAD-4.0.0 7.43779E-06
26360 75 R/H 107 rs761481924 0.1392 None gnomAD-2.1.1 1.61E-05
26360 75 R/H 107 rs761481924 0.1392 None gnomAD-3.1.2 6.58E-06
26360 75 R/H 107 rs761481924 0.1392 None gnomAD-4.0.0 3.96677E-05
26360 75 R/L 107 None 0.1392 None gnomAD-4.0.0 6.84289E-07
26361 76 I/M 108 rs776297490 0.0680 None gnomAD-2.1.1 4.02E-06
26361 76 I/M 108 rs776297490 0.0680 None gnomAD-4.0.0 1.16326E-05
26362 77 M/T 109 rs529839486 0.1011 None gnomAD-2.1.1 2.28689E-04
26362 77 M/T 109 rs529839486 0.1011 None gnomAD-3.1.2 2.82642E-04
26362 77 M/T 109 rs529839486 0.1011 None 1000 genomes 1.99681E-04
26362 77 M/T 109 rs529839486 0.1011 None gnomAD-4.0.0 1.59265E-04
26363 78 A/T 110 None 0.0890 None gnomAD-4.0.0 1.20033E-06
26364 79 V/A 111 rs746511599 0.1192 None gnomAD-2.1.1 1.79E-05
26364 79 V/A 111 rs746511599 0.1192 None gnomAD-3.1.2 1.31E-05
26364 79 V/A 111 rs746511599 0.1192 None gnomAD-4.0.0 1.15324E-05
26367 82 Y/C 114 rs1317943530 0.7144 None gnomAD-2.1.1 8.05E-06
26367 82 Y/C 114 rs1317943530 0.7144 None gnomAD-4.0.0 3.18317E-06
26367 82 Y/H 114 rs772020430 0.7144 None gnomAD-4.0.0 7.202E-06
26368 83 G/A 115 rs371325635 0.2205 None gnomAD-2.1.1 4.02E-06
26368 83 G/A 115 rs371325635 0.2205 None gnomAD-4.0.0 6.84271E-07
26368 83 G/V 115 rs371325635 0.2205 None gnomAD-2.1.1 1.43E-05
26368 83 G/V 115 rs371325635 0.2205 None gnomAD-3.1.2 2.63E-05
26368 83 G/V 115 rs371325635 0.2205 None gnomAD-4.0.0 1.92129E-05
26369 84 V/G 117 None 0.4603 None gnomAD-4.0.0 1.20032E-06
26369 84 V/I 117 rs778729064 0.4603 None gnomAD-3.1.2 1.97E-05
26369 84 V/I 117 rs778729064 0.4603 None gnomAD-4.0.0 8.96861E-06
26370 85 G/A 118 None 0.1272 None gnomAD-4.0.0 6.84271E-07
26370 85 G/E 118 rs727505061 0.1272 None gnomAD-4.0.0 4.10562E-06
26373 88 L/M 121 None 0.1454 None gnomAD-4.0.0 4.77468E-06
26374 89 E/G 122 rs878945480 0.3814 None gnomAD-3.1.2 6.58E-06
26374 89 E/G 122 rs878945480 0.3814 None gnomAD-4.0.0 2.03007E-06
26376 91 A/E 125 rs397517714 0.5642 None gnomAD-3.1.2 6.58E-06
26376 91 A/E 125 rs397517714 0.5642 None gnomAD-4.0.0 1.23957E-06
26376 91 A/G 125 None 0.5642 None gnomAD-4.0.0 6.8427E-07
26376 91 A/V 125 rs397517714 0.5642 None gnomAD-2.1.1 4.02E-06
26376 91 A/V 125 rs397517714 0.5642 None gnomAD-4.0.0 1.16326E-05
26377 92 P/S 126 rs752752131 0.4642 None gnomAD-2.1.1 1.79E-05
26377 92 P/S 126 rs752752131 0.4642 None gnomAD-3.1.2 1.32E-05
26377 92 P/S 126 rs752752131 0.4642 None gnomAD-4.0.0 1.11564E-05
26378 93 V/I 127 rs1476994621 0.1956 None gnomAD-2.1.1 4.02E-06
26378 93 V/I 127 rs1476994621 0.1956 None gnomAD-4.0.0 1.36855E-06
26379 94 L/R 129 None 0.3731 None gnomAD-4.0.0 1.36854E-06
26379 94 L/V 129 rs1706131161 0.3731 None gnomAD-3.1.2 6.58E-06
26379 94 L/V 129 rs1706131161 0.3731 None gnomAD-4.0.0 6.57713E-06
26380 95 M/I 130 rs755474723 0.0567 None gnomAD-2.1.1 1.21E-05
26380 95 M/I 130 rs755474723 0.0567 None gnomAD-4.0.0 6.36641E-06
26380 95 M/T 130 None 0.0567 None gnomAD-4.0.0 1.20032E-06
26382 97 N/D 132 rs751896572 0.2673 None gnomAD-2.1.1 4.03E-06
26382 97 N/D 132 rs751896572 0.2673 None gnomAD-4.0.0 2.73708E-06
26382 97 N/H 132 rs751896572 0.2673 None gnomAD-2.1.1 4.03E-06
26382 97 N/H 132 rs751896572 0.2673 None gnomAD-3.1.2 6.58E-06
26382 97 N/H 132 rs751896572 0.2673 None gnomAD-4.0.0 4.33842E-06
26382 97 N/T 132 rs727505049 0.2673 None gnomAD-2.1.1 4.03E-06
26382 97 N/T 132 rs727505049 0.2673 None gnomAD-4.0.0 5.47414E-06